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A new bioinformatics tool to help assess the significance of BRCA1 variants.

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第一作者： Isabelle,Cusin

第一单位： CALIPHO group, SIB Swiss Institute of Bioinformatics, 1211, Geneva 4, Switzerland.

作者： Isabelle,Cusin ^[1] ; Daniel,Teixeira ^[1] ; Monique,Zahn-Zabal ^[1] ; Valentine,Rech de Laval ^[2] ; Anne,Gleizes ^[1] ; Valeria,Viassolo ^[3] ; Pierre O,Chappuis ^[4] ; Pierre,Hutter ^[5] ; Amos,Bairoch ^[2] ; Pascale,Gaudet ^[6]

作者单位： CALIPHO group, SIB Swiss Institute of Bioinformatics, 1211, Geneva 4, Switzerland. ^[1] CALIPHO group, SIB Swiss Institute of Bioinformatics, 1211, Geneva 4, Switzerland.;Department of Human Protein Sciences, Faculty of Medicine, University of Geneva, Geneva, Switzerland. ^[2] Oncogenetics and Cancer Prevention Unit, Division of Oncology, University Hospitals of Geneva, 1205, Geneva, Switzerland. ^[3] Oncogenetics and Cancer Prevention Unit, Division of Oncology, University Hospitals of Geneva, 1205, Geneva, Switzerland.;Division of Genetic Medicine, University Hospitals of Geneva, 1205, Geneva, Switzerland. ^[4] Sophia Genetics, Rue du Centre 172, 1025, Saint Sulpice, Switzerland. ^[5] CALIPHO group, SIB Swiss Institute of Bioinformatics, 1211, Geneva 4, Switzerland. pascale.gaudet@sib.swiss.;Department of Human Protein Sciences, Faculty of Medicine, University of Geneva, Geneva, Switzerland. pascale.gaudet@sib.swiss. ^[6]

关键词 BRCA1 Biological database Cancer Functional defect assessment Genetic variants Molecular phenotypes